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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Evoked potential abnormalities in myotonic dystrophy.

Past investigators have reported evidence of central nervous system involvement in myotonic dystrophy (MYD), including EEG abnormalities, ventricular enlargement, thalamic inclusion bodies, and impaired tests of cognitive function. Brain stem auditory evoked potentials have not been reported in myotonic dystrophy. We report the results of brain stem auditory (BAEP) and median nerve somatosensory (MSSEP) evoked potentials in 15 patients with MYD (9 males, 6 females, mean age = 35.8 +/- 11.4 years). BAEPs were abnormal in 53.3% (P less than 0.05). Four patients had abnormal wave I-III interwave latencies, 3 had abnormal wave III-V latencies, and 1 patient had both wave I-III and wave III-V latencies prolonged. MSSEPs were abnormal in 13.3% (P N.S.). Both patients showed a delay of the P15-N19 thalamic complex. Both patients had a normal clinical sensory examination and normal peripheral nerve conduction. No correlation was found between abnormal evoked potentials and patient age. A sex difference, however, was noted with 8/9 males having one or more abnormal evoked potentials compared with 0/6 females. Though our finding of abnormal MSSEPs was not statistically significant, both patients showed delay at the thalamic level, where pathology has been described. Abnormal ocular pursuit and sluggish pupillary reaction have implicated brain stem involvement in MYD. The abnormal BAEPs at the level of the pons and midbrain in this study provide neurophysiological evidence of brain stem pathology in MYD.[1]


  1. Evoked potential abnormalities in myotonic dystrophy. Thompson, D.S., Woodward, J.B., Ringel, S.P., Nelson, L.M. Electroencephalography and clinical neurophysiology. (1983) [Pubmed]
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